FEZF1 - FEZ family zinc finger 1 Gene

中文名称：FEZ 系列锌指 1

种属: Homo sapiens

同用名: FEZ; HH22; ZNF312B

基因 ID: 389549 | 基因类型: protein coding

关于 FEZF1

Cytogenetic location: 7q31.32 Genomic coordinates (GRCh38): 7:122,301,303-122,310,723 (from NCBI)

This gene has 3 transcripts (splice variants), 196 orthologues, 28 paralogues and is associated with 4 phenotypes. Restricted expression toward testis (RPKM 1.2).

功能概要

该基因编码属于锌指双结构域蛋白家族的转录抑制因子。编码的蛋白质被认为在促性腺激素释放激素神经元向大脑的胚胎迁移中发挥作用。该基因的突变与低促性腺激素性性腺功能减退症 22 伴嗅觉缺失有关。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 10 月]

This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

FEZF1 基因产物(2)

mRNA	Protein	Name
NM_001024613.4	NP_001019784.2	fez family zinc finger protein 1 isoform 1
NM_001160264.2	NP_001153736.1	fez family zinc finger protein 1 isoform 2

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

FEZF1 蛋白结构

zf-H2C2_2

zf-C2H2

0
100
200
300
400
475 a.a.

蛋白主名

其他名称

fez family zinc finger protein 1

zinc finger protein 312B

FEZF1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	FEZF1	A0PJY2	KRT40	Homo sapiens	Q6A162	Y2H Prey Pooling	32296183
种属内	FEZF1	A0PJY2	KRT40	Homo sapiens	Q6A162	Validated Y2H	32296183
种属内	FEZF1	A0PJY2	KRT40	Homo sapiens	Q6A162	Y2H Array	32296183
种属内	FEZF1	A0PJY2	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
种属内	FEZF1	A0PJY2	KRTAP10-8	Homo sapiens	P60410	Validated Y2H	32296183
种属内	FEZF1	A0PJY2	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
种属内	FEZF1	A0PJY2	KRTAP1-1	Homo sapiens	Q07627	Y2H Array	32296183
种属内	FEZF1	A0PJY2	KRTAP1-1	Homo sapiens	Q07627	Validated Y2H	32296183
种属内	FEZF1	A0PJY2	KRTAP1-1	Homo sapiens	Q07627	Y2H Prey Pooling	32296183
种属内	FEZF1	A0PJY2	CYSRT1	Homo sapiens	A8MQ03	Validated Y2H	32296183
种属内	FEZF1	A0PJY2	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
种属内	FEZF1	A0PJY2	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
种属内	FEZF1	A0PJY2	MDFI	Homo sapiens	Q99750	Y2H Array	32296183
种属内	FEZF1	A0PJY2	MDFI	Homo sapiens	Q99750	Validated Y2H	32296183
种属内	FEZF1	A0PJY2	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	32296183
种属内	FEZF1	A0PJY2	FHL5	Homo sapiens	Q5TD97	Y2H Prey Pooling	32296183
种属内	FEZF1	A0PJY2	FHL5	Homo sapiens	Q5TD97	Validated Y2H	32296183
种属内	FEZF1	A0PJY2	FHL5	Homo sapiens	Q5TD97	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Hypogonadotropic Hypogonadism 22 With Or Without Anosmia

HH22	Hypogonadotropic Hypogonadism 22, With Or Without Anosmia
Hypogonadism, Hypogonadotropic, Type 22 With/Without Anosmia

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

Pancreatic Ductal Adenocarcinoma

Ductal Adenocarcinoma Of The Pancreas

Hypogonadotropic Hypogonadism 7 With Or Without Anosmia

Idiopathic Hypogonadotropic Hypogonadism	HH7
Hypogonadism, Isolated Hypogonadotropic	Ihh
Hypogonadism, Isolated, Hypogonadotropic	Hypogonadotropic Hypogonadism
Isolated Hypogonadotropic Hypogonadism	Hypogonadotropic Hypogonadism 7 Without Anosmia
Congenital Hypogonadotropic Hypogonadism Normosmic	Hh
Klinefelter Syndrome	Isolated Gonadotropin Deficiency

Hypogonadotropic Hypogonadism

Klinefelter Syndrome	Klinefelter'S Syndrome
Xxy Syndrome	Xxy Trisomy
Hypogonadotropism	47, Xxy
Congenital Idiopathic Hypogonadotropic Hypogonadism	Isolated Congenital Gonadotropin Deficiency
47,Xxy Syndrome	47, Xxy Syndrome
Klinefelters Syndrome	Hypogonadism
Klinefelter Syndrome In Males	Klinefelter Syndrome, Unspecified
Klinefelter Syndrome Karyotype 47, Xxy

Hypogonadism

Uterine Inversion

Inversion Of Uterus During Delivery

Myopathy, Myosin Storage, Autosomal Dominant

MSMA	Myopathy, Hyaline Body, Autosomal Dominant
Myopathy With Lysis Of Type I Myofibrils	Autosomal Dominant Hyaline Body Myopathy
Hyaline Body Myopathy Autosomal Dominant

Gastric Cancer

Stomach Cancer	Gastric Carcinoma
Stomach Carcinoma	Gastric Cancer, Somatic
Gastric Neoplasm	Carcinoma Of Stomach
Stomach Neoplasms	Malignant Neoplasm Of Stomach
Gastric Cancer Risk After H. Pylori Infection	Cancer Of The Stomach
Adult Stomach Cancer	Adult Stomach Carcinoma
GASC	Gastric Cancer Intestinal
Gastric Cancers	Gastric Carcinomas
Cancer, Gastric	Stomach Neoplasm
Malignant Neoplasm Of Body Of Stomach	Malignant Tumor Of Lesser Curve Of Stomach
Gastrocarcinoma Of Unspecified Site	Leather Bottle Stomach
Carcinoma Of Fundus Of Stomach	Cancer Of Fundus Of Stomach
Primary Malignant Neoplasm Of Body Of Stomach	Cancer Of Body Of Stomach
Primary Malignant Neoplasm Of Pyloric Antrum	Pyloric Antrum Cancer
Malignant Tumour Of Stomach

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04872	FEZF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	FEZF1	VGNC	VGNC:28959
Felis catus	FEZF1	VGNC	VGNC:80041
Rattus norvegicus	FEZF1	RGD	RGD:1560480
Macaca mulatta	FEZF1	VGNC	VGNC:72550
Mus musculus	FEZF1	MGD	MGI:1920441

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